Gene: FGD1
Alternate names for this Gene: AAS|FGDY|MRXS16|ZFYVE3
Gene Summary: This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability.
Gene is located in Chromosome: X
Location in Chromosome : Xp11.22
Description of this Gene: FYVE, RhoGEF and PH domain containing 1
Type of Gene: protein-coding
rs137853264 in
FGD1 gene and
Aarskog syndrome
PMID 21654724 2011 Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
PMID 10930571 2000 A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
PMID 14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
PMID 11093277 2000 Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
rs137853266 in
FGD1 gene and
Dysmorphic features
PMID 14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
PMID 16353258 2006 Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
PMID 11940089 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
PMID 15809997 2005 Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
PMID 16688726 2006 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
PMID 17152066 2007 Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
PMID 20082460 2010 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
PMID 22211847 2012 Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
PMID 19110080 2009 First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
PMID 8969170 1996 The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.
rs1557189592 in
FGD1 gene and
Multiple congenital anomalies
PMID 19110080 2009 First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
PMID 22211847 2012 Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
PMID 16353258 2006 Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
PMID 17152066 2007 Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
PMID 15809997 2005 Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
PMID 14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
PMID 16688726 2006 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
PMID 11940089 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
PMID 20082460 2010 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
PMID 8969170 1996 The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.